Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	13212837
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV426999
Name:	NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr)

Acc ID:	DOID:9006273
Term:	Pseudoxanthoma Elasticum, Heterozygous
Definition:	null

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
CV426999		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS	PMID:18253096 PMID:25741868 PMID:32873932

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.